Canonical Allele Identifier: CA408117239

Gene: PANK2

Linked Data

• gnomAD v4: 20-3912474-T-C
• MyVariant Identifiers: chr20:g.3893121T>C (hg19) ; chr20:g.3912474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912474T>C , CM000682.2:g.3912474T>C	GRCh38
NC_000020.10:g.3893121T>C , CM000682.1:g.3893121T>C	GRCh37
NC_000020.9:g.3841121T>C	NCBI36
NG_008131.3:g.28636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.922T>C MANE Select	ENSP00000477429.2:p.Phe308Leu
ENST00000316562.9:c.1252T>C	ENSP00000313377.4:p.Phe418Leu
ENST00000336066.8:c.*263T>C	ENSP00000477229.2:n.*263T>C
ENST00000610179.6:c.922T>C	ENSP00000477429.2:p.Phe308Leu
ENST00000643504.2:c.*552T>C	ENSP00000495157.2:n.*552T>C
ENST00000646394.1:c.749T>C
ENST00000316562.8:c.1252T>C	ENSP00000313377.4:p.Phe418Leu
ENST00000336066.7:c.*263T>C	ENSP00000477229.1:n.*263T>C
ENST00000464452.1:n.487T>C
ENST00000495692.5:c.-57T>C	ENSP00000476745.1:n.-57T>C
ENST00000497424.5:c.379T>C	ENSP00000417609.1:p.Phe127Leu
ENST00000610179.5:c.883T>C	ENSP00000477429.1:p.Phe295Leu
ENST00000621507.1:c.379T>C	ENSP00000481523.1:p.Phe127Leu
NM_024960.4:c.379T>C	NP_079236.3:p.Phe127Leu
NM_153638.2:c.1252T>C	NP_705902.2:p.Phe418Leu
NM_153640.2:c.379T>C	NP_705904.1:p.Phe127Leu
XM_005260835.2:c.637T>C	XP_005260892.1:p.Phe213Leu
XM_005260836.3:c.379T>C	XP_005260893.3:p.Phe127Leu
XM_006723631.1:c.379T>C	XP_006723694.1:p.Phe127Leu
XM_011529364.1:c.1235+1644T>C	XP_011527666.1:n.1235+1644T>C
NM_001324191.1:c.379T>C	NP_001311120.1:p.Phe127Leu
NM_001324193.1:c.-57T>C	NP_001311122.1:n.-57T>C
NM_024960.5:c.379T>C	NP_079236.3:p.Phe127Leu
NM_153638.3:c.1252T>C	NP_705902.2:p.Phe418Leu
NM_153640.3:c.379T>C	NP_705904.1:p.Phe127Leu
NR_136715.1:n.1276T>C
XM_005260835.3:c.637T>C	XP_005260892.1:p.Phe213Leu
XM_005260836.4:c.379T>C	XP_005260893.3:p.Phe127Leu
XM_011529364.3:c.1235+1644T>C	XP_011527666.1:n.1235+1644T>C
XM_017028077.2:c.-57T>C	XP_016883566.1:n.-57T>C
XM_017028078.2:c.-57T>C	XP_016883567.1:n.-57T>C
XM_017028079.2:c.-57T>C	XP_016883568.1:n.-57T>C
XM_024452002.1:c.-57T>C	XP_024307770.1:n.-57T>C
XR_002958533.1:n.2040T>C
NM_001324191.2:c.379T>C	NP_001311120.1:p.Phe127Leu
NM_001324193.2:c.-57T>C	NP_001311122.1:n.-57T>C
NM_024960.6:c.379T>C	NP_079236.3:p.Phe127Leu
NR_136715.2:n.823T>C
NM_001386393.1:c.922T>C MANE Select	NP_001373322.1:p.Phe308Leu
NM_153638.4:c.1252T>C	NP_705902.2:p.Phe418Leu
NM_153640.4:c.379T>C	NP_705904.1:p.Phe127Leu