Canonical Allele Identifier: CA363617540

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164896-C-A
• MyVariant Identifiers: chr6:g.33132673C>A (hg19) ; chr6:g.33164896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164896C>A , CM000668.2:g.33164896C>A	GRCh38
NC_000006.11:g.33132673C>A , CM000668.1:g.33132673C>A	GRCh37
NC_000006.10:g.33240651C>A	NCBI36
NG_011589.1:g.32573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.625G>T
ENST00000341947.7:c.4819G>T MANE Select	ENSP00000339915.2:p.Ala1607Ser
ENST00000341947.6:c.4819G>T	ENSP00000339915.2:p.Ala1607Ser
ENST00000361917.5:c.4498G>T	ENSP00000355123.1:p.Ala1500Ser
ENST00000374708.8:c.4561G>T	ENSP00000363840.4:p.Ala1521Ser
ENST00000477772.1:n.609G>T
NM_080679.2:c.4498G>T	NP_542410.2:p.Ala1500Ser
NM_080680.2:c.4819G>T	NP_542411.2:p.Ala1607Ser
NM_080681.2:c.4561G>T	NP_542412.2:p.Ala1521Ser
XM_011514298.1:c.3973G>T	XP_011512600.1:p.Ala1325Ser
XM_011514299.1:c.4105G>T	XP_011512601.1:p.Ala1369Ser
XM_011514300.1:c.3925G>T	XP_011512602.1:p.Ala1309Ser
XM_011514301.1:c.3862G>T	XP_011512603.1:p.Ala1288Ser
XM_011514302.1:c.3706G>T	XP_011512604.1:p.Ala1236Ser
XM_011514299.2:c.4105G>T	XP_011512601.1:p.Ala1369Ser
XM_011514300.2:c.3925G>T	XP_011512602.1:p.Ala1309Ser
XM_011514302.2:c.3706G>T	XP_011512604.1:p.Ala1236Ser
XM_017010250.1:c.4819G>T	XP_016865739.1:p.Ala1607Ser
XM_017010251.2:c.3637G>T	XP_016865740.1:p.Ala1213Ser
NM_080680.3:c.4819G>T MANE Select	NP_542411.2:p.Ala1607Ser
NM_080681.3:c.4561G>T	NP_542412.2:p.Ala1521Ser
NM_080679.3:c.4498G>T	NP_542410.2:p.Ala1500Ser