Canonical Allele Identifier: CA363616165

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132141G>A (hg19) ; chr6:g.33164364G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.779C>T
ENST00000341947.7:c.4973C>T MANE Select	ENSP00000339915.2:p.Ala1658Val
ENST00000341947.6:c.4973C>T	ENSP00000339915.2:p.Ala1658Val
ENST00000361917.5:c.4652C>T	ENSP00000355123.1:p.Ala1551Val
ENST00000374708.8:c.4715C>T	ENSP00000363840.4:p.Ala1572Val
ENST00000477772.1:n.763C>T
NM_080679.2:c.4652C>T	NP_542410.2:p.Ala1551Val
NM_080680.2:c.4973C>T	NP_542411.2:p.Ala1658Val
NM_080681.2:c.4715C>T	NP_542412.2:p.Ala1572Val
XM_011514298.1:c.4127C>T	XP_011512600.1:p.Ala1376Val
XM_011514299.1:c.4259C>T	XP_011512601.1:p.Ala1420Val
XM_011514300.1:c.4079C>T	XP_011512602.1:p.Ala1360Val
XM_011514301.1:c.4016C>T	XP_011512603.1:p.Ala1339Val
XM_011514302.1:c.3860C>T	XP_011512604.1:p.Ala1287Val
XM_011514299.2:c.4259C>T	XP_011512601.1:p.Ala1420Val
XM_011514300.2:c.4079C>T	XP_011512602.1:p.Ala1360Val
XM_011514302.2:c.3860C>T	XP_011512604.1:p.Ala1287Val
XM_017010250.1:c.4973C>T	XP_016865739.1:p.Ala1658Val
XM_017010251.2:c.3791C>T	XP_016865740.1:p.Ala1264Val
NM_080680.3:c.4973C>T MANE Select	NP_542411.2:p.Ala1658Val
NM_080681.3:c.4715C>T	NP_542412.2:p.Ala1572Val
NM_080679.3:c.4652C>T	NP_542410.2:p.Ala1551Val