Canonical Allele Identifier: CA236223
Gene: ANK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 191194
ClinVar RCV Id: RCV000171380
dbSNP Id: rs786205571

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.113356462C>A , CM000666.2:g.113356462C>A GRCh38
NC_000004.11:g.114277618C>A , CM000666.1:g.114277618C>A GRCh37
NC_000004.10:g.114497067C>A NCBI36
NG_009006.2:g.543380C>A , LRG_327:g.543380C>A

Transcript Alleles

HGVS Amino-acid change
NM_001127493.1:c.4400-4361C>A , LRG_327t2:c.4400-4361C>A NP_001120965.1:p.=
NM_001148.4:c.7844C>A , LRG_327t1:c.7844C>A NP_001139.3:p.Pro2615His
NM_020977.3:c.4427-4361C>A VV NP_066187.2:p.=
XM_005262942.3:c.7877C>A XP_005262999.1:p.Pro2626His
XM_005262945.1:c.7745C>A XP_005263002.1:p.Pro2582His
XM_005262948.3:c.4424-4361C>A XP_005263005.1:p.=
XM_006714188.2:c.7931C>A XP_006714251.1:p.Pro2644His
XM_006714189.2:c.7895C>A XP_006714252.1:p.Pro2632His
XM_006714190.2:c.4481-4361C>A XP_006714253.1:p.=
XM_006714191.2:c.4514-4361C>A XP_006714254.1:p.=
XM_006714192.2:c.4445-4361C>A XP_006714255.1:p.=
XM_006714193.2:c.4514-4361C>A XP_006714256.1:p.=
XM_006714194.2:c.7871C>A XP_006714257.1:p.Pro2624His
XM_011531891.1:c.7916C>A XP_011530193.1:p.Pro2639His
NM_001127493.2:c.4400-4361C>A VV NP_001120965.1:p.=
NM_001148.5:c.7844C>A VV NP_001139.3:p.Pro2615His
NM_001354225.1:c.4439-4361C>A VV NP_001341154.1:p.=
NM_001354228.1:c.4328-4361C>A VV NP_001341157.1:p.=
NM_001354230.1:c.4406-4361C>A VV NP_001341159.1:p.=
NM_001354231.1:c.4469-4361C>A VV NP_001341160.1:p.=
NM_001354232.1:c.4463-4361C>A VV NP_001341161.1:p.=
NM_001354235.1:c.4424-4361C>A VV NP_001341164.1:p.=
NM_001354236.1:c.4325-4361C>A VV NP_001341165.1:p.=
NM_001354237.1:c.4505-4361C>A VV NP_001341166.1:p.=
NM_001354239.1:c.4397-4361C>A VV NP_001341168.1:p.=
NM_001354240.1:c.4472-4361C>A VV NP_001341169.1:p.=
NM_001354241.1:c.4472-4361C>A VV NP_001341170.1:p.=
NM_001354242.1:c.4469-4361C>A VV NP_001341171.1:p.=
NM_001354243.1:c.4364-4361C>A VV NP_001341172.1:p.=
NM_001354244.1:c.4361-4361C>A VV NP_001341173.1:p.=
NM_001354245.1:c.4265-4361C>A VV NP_001341174.1:p.=
NM_001354246.1:c.4424-4361C>A VV NP_001341175.1:p.=
NM_001354249.1:c.4241-4361C>A VV NP_001341178.1:p.=
NM_001354252.1:c.4397-4361C>A VV NP_001341181.1:p.=
NM_001354253.1:c.4202-4361C>A VV NP_001341182.1:p.=
NM_001354254.1:c.4376-4361C>A VV NP_001341183.1:p.=
NM_001354255.1:c.4364-4361C>A VV NP_001341184.1:p.=
NM_001354256.1:c.4361-4361C>A VV NP_001341185.1:p.=
NM_001354257.1:c.4166-4361C>A VV NP_001341186.1:p.=
NM_001354258.1:c.4328-4361C>A VV NP_001341187.1:p.=
NM_001354260.1:c.4142-4361C>A VV NP_001341189.1:p.=
NM_001354261.1:c.4286-4361C>A VV NP_001341190.1:p.=
NM_001354262.1:c.4265-4361C>A VV NP_001341191.1:p.=
NM_001354264.1:c.4262-4361C>A VV NP_001341193.1:p.=
NM_001354265.1:c.4424-4361C>A VV NP_001341194.1:p.=
NM_001354266.1:c.4241-4361C>A VV NP_001341195.1:p.=
NM_001354267.1:c.4241-4361C>A VV NP_001341196.1:p.=
NM_001354268.1:c.4229-4361C>A VV NP_001341197.1:p.=
NM_001354269.1:c.4214-4361C>A VV NP_001341198.1:p.=
NM_001354270.1:c.4202-4361C>A VV NP_001341199.1:p.=
NM_001354271.1:c.4142-4361C>A VV NP_001341200.1:p.=
NM_001354272.1:c.4298-4361C>A VV NP_001341201.1:p.=
NM_001354273.1:c.4127-4361C>A VV NP_001341202.1:p.=
NM_001354274.1:c.4193-4361C>A VV NP_001341203.1:p.=
NM_001354275.1:c.4265-4361C>A VV NP_001341204.1:p.=
NM_001354276.1:c.4241-4361C>A VV NP_001341205.1:p.=
NM_001354277.1:c.4043-4361C>A VV NP_001341206.1:p.=
NM_001354278.1:c.1955-4361C>A VV NP_001341207.1:p.=
NM_001354279.1:c.1991-4361C>A VV NP_001341208.1:p.=
NM_001354280.1:c.1976-4361C>A VV NP_001341209.1:p.=
NM_001354281.1:c.1955-4361C>A VV NP_001341210.1:p.=
NM_001354282.1:c.1991-4361C>A VV NP_001341211.1:p.=
NM_020977.4:c.4427-4361C>A VV NP_066187.2:p.=
XM_005262945.3:c.7745C>A XP_005263002.1:p.Pro2582His
XM_017008067.1:c.7985C>A XP_016863556.1:p.Pro2662His
XM_017008069.1:c.7961C>A XP_016863558.1:p.Pro2654His
XM_017008071.2:c.7871C>A XP_016863560.1:p.Pro2624His
XM_017008072.2:c.7847C>A XP_016863561.1:p.Pro2616His
XM_017008073.2:c.7844C>A XP_016863562.1:p.Pro2615His
XM_017008074.2:c.7817C>A XP_016863563.1:p.Pro2606His
XM_017008075.2:c.7781C>A XP_016863564.1:p.Pro2594His
XM_017008076.2:c.7844C>A XP_016863565.1:p.Pro2615His
XM_017008077.2:c.7658C>A XP_016863566.1:p.Pro2553His
XM_017008078.2:c.4427-4361C>A XP_016863567.1:p.=
XM_017008080.2:c.4277-4361C>A XP_016863569.1:p.=
XM_024454016.1:c.7880C>A XP_024309784.1:p.Pro2627His
XM_024454017.1:c.4463-4361C>A XP_024309785.1:p.=
XM_024454018.1:c.4328-4361C>A XP_024309786.1:p.=
XM_024454019.1:c.4406-4361C>A XP_024309787.1:p.=
XM_024454020.1:c.4328-4361C>A XP_024309788.1:p.=
XM_024454021.1:c.4325-4361C>A XP_024309789.1:p.=
XM_024454022.1:c.4265-4361C>A XP_024309790.1:p.=
XM_024454023.1:c.4127-4361C>A XP_024309791.1:p.=
NM_001148.6:c.7844C>A VV MANE Preferred NP_001139.3:p.Pro2615His
ENST00000264366.10:n.7745C>A ENSP00000264366.6:p.Pro2582His
ENST00000357077.8:c.7844C>A ENSP00000349588.4:p.Pro2615His
ENST00000394537.7:c.4427-4361C>A ENSP00000378044.3:p.=
ENST00000504415.5:n.384-4361C>A
ENST00000506722.5:c.4400-4361C>A ENSP00000421067.1:p.=
ENST00000508007.5:n.536-4361C>A
ENST00000509550.5:c.1955-4361C>A ENSP00000426944.1:p.=
ENST00000510275.6:c.383-4361C>A ENSP00000421023.2:p.=
ENST00000514960.5:n.1431-4361C>A
ENST00000612754.1:c.-56-195C>A ENSP00000482888.1:p.=