Canonical Allele Identifier: CA363616088

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132124G>T (hg19) ; chr6:g.33164347G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164347G>T , CM000668.2:g.33164347G>T	GRCh38
NC_000006.11:g.33132124G>T , CM000668.1:g.33132124G>T	GRCh37
NC_000006.10:g.33240102G>T	NCBI36
NG_011589.1:g.33122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.796C>A
ENST00000341947.7:c.4990C>A MANE Select	ENSP00000339915.2:p.Leu1664Met
ENST00000341947.6:c.4990C>A	ENSP00000339915.2:p.Leu1664Met
ENST00000361917.5:c.4669C>A	ENSP00000355123.1:p.Leu1557Met
ENST00000374708.8:c.4732C>A	ENSP00000363840.4:p.Leu1578Met
ENST00000477772.1:n.780C>A
NM_080679.2:c.4669C>A	NP_542410.2:p.Leu1557Met
NM_080680.2:c.4990C>A	NP_542411.2:p.Leu1664Met
NM_080681.2:c.4732C>A	NP_542412.2:p.Leu1578Met
XM_011514298.1:c.4144C>A	XP_011512600.1:p.Leu1382Met
XM_011514299.1:c.4276C>A	XP_011512601.1:p.Leu1426Met
XM_011514300.1:c.4096C>A	XP_011512602.1:p.Leu1366Met
XM_011514301.1:c.4033C>A	XP_011512603.1:p.Leu1345Met
XM_011514302.1:c.3877C>A	XP_011512604.1:p.Leu1293Met
XM_011514299.2:c.4276C>A	XP_011512601.1:p.Leu1426Met
XM_011514300.2:c.4096C>A	XP_011512602.1:p.Leu1366Met
XM_011514302.2:c.3877C>A	XP_011512604.1:p.Leu1293Met
XM_017010250.1:c.4990C>A	XP_016865739.1:p.Leu1664Met
XM_017010251.2:c.3808C>A	XP_016865740.1:p.Leu1270Met
NM_080680.3:c.4990C>A MANE Select	NP_542411.2:p.Leu1664Met
NM_080681.3:c.4732C>A	NP_542412.2:p.Leu1578Met
NM_080679.3:c.4669C>A	NP_542410.2:p.Leu1557Met