Canonical Allele Identifier: CA363616167

Gene: COL11A2

Linked Data

• dbSNP Id: rs1562301766
• gnomAD v4: 6-33164364-G-C
• MyVariant Identifiers: chr6:g.33132141G>C (hg19) ; chr6:g.33164364G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164364G>C , CM000668.2:g.33164364G>C	GRCh38
NC_000006.11:g.33132141G>C , CM000668.1:g.33132141G>C	GRCh37
NC_000006.10:g.33240119G>C	NCBI36
NG_011589.1:g.33105C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.779C>G
ENST00000341947.7:c.4973C>G MANE Select	ENSP00000339915.2:p.Ala1658Gly
ENST00000341947.6:c.4973C>G	ENSP00000339915.2:p.Ala1658Gly
ENST00000361917.5:c.4652C>G	ENSP00000355123.1:p.Ala1551Gly
ENST00000374708.8:c.4715C>G	ENSP00000363840.4:p.Ala1572Gly
ENST00000477772.1:n.763C>G
NM_080679.2:c.4652C>G	NP_542410.2:p.Ala1551Gly
NM_080680.2:c.4973C>G	NP_542411.2:p.Ala1658Gly
NM_080681.2:c.4715C>G	NP_542412.2:p.Ala1572Gly
XM_011514298.1:c.4127C>G	XP_011512600.1:p.Ala1376Gly
XM_011514299.1:c.4259C>G	XP_011512601.1:p.Ala1420Gly
XM_011514300.1:c.4079C>G	XP_011512602.1:p.Ala1360Gly
XM_011514301.1:c.4016C>G	XP_011512603.1:p.Ala1339Gly
XM_011514302.1:c.3860C>G	XP_011512604.1:p.Ala1287Gly
XM_011514299.2:c.4259C>G	XP_011512601.1:p.Ala1420Gly
XM_011514300.2:c.4079C>G	XP_011512602.1:p.Ala1360Gly
XM_011514302.2:c.3860C>G	XP_011512604.1:p.Ala1287Gly
XM_017010250.1:c.4973C>G	XP_016865739.1:p.Ala1658Gly
XM_017010251.2:c.3791C>G	XP_016865740.1:p.Ala1264Gly
NM_080680.3:c.4973C>G MANE Select	NP_542411.2:p.Ala1658Gly
NM_080681.3:c.4715C>G	NP_542412.2:p.Ala1572Gly
NM_080679.3:c.4652C>G	NP_542410.2:p.Ala1551Gly