Canonical Allele Identifier: CA363616397

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132190G>T (hg19) ; chr6:g.33164413G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164413G>T , CM000668.2:g.33164413G>T	GRCh38
NC_000006.11:g.33132190G>T , CM000668.1:g.33132190G>T	GRCh37
NC_000006.10:g.33240168G>T	NCBI36
NG_011589.1:g.33056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.730C>A
ENST00000341947.7:c.4924C>A MANE Select	ENSP00000339915.2:p.Leu1642Met
ENST00000341947.6:c.4924C>A	ENSP00000339915.2:p.Leu1642Met
ENST00000361917.5:c.4603C>A	ENSP00000355123.1:p.Leu1535Met
ENST00000374708.8:c.4666C>A	ENSP00000363840.4:p.Leu1556Met
ENST00000477772.1:n.714C>A
NM_080679.2:c.4603C>A	NP_542410.2:p.Leu1535Met
NM_080680.2:c.4924C>A	NP_542411.2:p.Leu1642Met
NM_080681.2:c.4666C>A	NP_542412.2:p.Leu1556Met
XM_011514298.1:c.4078C>A	XP_011512600.1:p.Leu1360Met
XM_011514299.1:c.4210C>A	XP_011512601.1:p.Leu1404Met
XM_011514300.1:c.4030C>A	XP_011512602.1:p.Leu1344Met
XM_011514301.1:c.3967C>A	XP_011512603.1:p.Leu1323Met
XM_011514302.1:c.3811C>A	XP_011512604.1:p.Leu1271Met
XM_011514299.2:c.4210C>A	XP_011512601.1:p.Leu1404Met
XM_011514300.2:c.4030C>A	XP_011512602.1:p.Leu1344Met
XM_011514302.2:c.3811C>A	XP_011512604.1:p.Leu1271Met
XM_017010250.1:c.4924C>A	XP_016865739.1:p.Leu1642Met
XM_017010251.2:c.3742C>A	XP_016865740.1:p.Leu1248Met
NM_080680.3:c.4924C>A MANE Select	NP_542411.2:p.Leu1642Met
NM_080681.3:c.4666C>A	NP_542412.2:p.Leu1556Met
NM_080679.3:c.4603C>A	NP_542410.2:p.Leu1535Met