Canonical Allele Identifier: CA1619890716
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33165006C= , CM000668.2:g.33165006C= GRCh38
NC_000006.11:g.33132783C= , CM000668.1:g.33132783C= GRCh37
NC_000006.10:g.33240761C= NCBI36
NG_011589.1:g.32463G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.557-42G=
ENST00000341947.7:c.4751-42G= MANE Select ENSP00000339915.2:n.4751-42G=
ENST00000341947.6:c.4751-42G= ENSP00000339915.2:n.4751-42G=
ENST00000361917.5:c.4430-42G= ENSP00000355123.1:n.4430-42G=
ENST00000374708.8:c.4493-42G= ENSP00000363840.4:n.4493-42G=
ENST00000477772.1:n.541-42G=
NM_080679.2:c.4430-42G= NP_542410.2:n.4430-42G=
NM_080680.2:c.4751-42G= NP_542411.2:n.4751-42G=
NM_080681.2:c.4493-42G= NP_542412.2:n.4493-42G=
XM_011514298.1:c.3905-42G= XP_011512600.1:n.3905-42G=
XM_011514299.1:c.4037-42G= XP_011512601.1:n.4037-42G=
XM_011514300.1:c.3857-42G= XP_011512602.1:n.3857-42G=
XM_011514301.1:c.3794-42G= XP_011512603.1:n.3794-42G=
XM_011514302.1:c.3638-42G= XP_011512604.1:n.3638-42G=
XM_011514299.2:c.4037-42G= XP_011512601.1:n.4037-42G=
XM_011514300.2:c.3857-42G= XP_011512602.1:n.3857-42G=
XM_011514302.2:c.3638-42G= XP_011512604.1:n.3638-42G=
XM_017010250.1:c.4751-42G= XP_016865739.1:n.4751-42G=
XM_017010251.2:c.3569-42G= XP_016865740.1:n.3569-42G=
NM_080680.3:c.4751-42G= MANE Select NP_542411.2:n.4751-42G=
NM_080681.3:c.4493-42G= NP_542412.2:n.4493-42G=
NM_080679.3:c.4430-42G= NP_542410.2:n.4430-42G=