Canonical Allele Identifier: CA363627912

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137235C>A (hg19) ; chr6:g.33169458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169458C>A , CM000668.2:g.33169458C>A	GRCh38
NC_000006.11:g.33137235C>A , CM000668.1:g.33137235C>A	GRCh37
NC_000006.10:g.33245213C>A	NCBI36
NG_011589.1:g.28011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3723G>T MANE Select	ENSP00000339915.2:p.Glu1241Asp
ENST00000341947.6:c.3723G>T	ENSP00000339915.2:p.Glu1241Asp
ENST00000361917.5:c.3402G>T	ENSP00000355123.1:p.Glu1134Asp
ENST00000374708.8:c.3465G>T	ENSP00000363840.4:p.Glu1155Asp
ENST00000477772.1:n.273-3642G>T
NM_080679.2:c.3402G>T	NP_542410.2:p.Glu1134Asp
NM_080680.2:c.3723G>T	NP_542411.2:p.Glu1241Asp
NM_080681.2:c.3465G>T	NP_542412.2:p.Glu1155Asp
XM_011514298.1:c.2877G>T	XP_011512600.1:p.Glu959Asp
XM_011514299.1:c.3009G>T	XP_011512601.1:p.Glu1003Asp
XM_011514300.1:c.2829G>T	XP_011512602.1:p.Glu943Asp
XM_011514301.1:c.2766G>T	XP_011512603.1:p.Glu922Asp
XM_011514302.1:c.2610G>T	XP_011512604.1:p.Glu870Asp
XM_011514299.2:c.3009G>T	XP_011512601.1:p.Glu1003Asp
XM_011514300.2:c.2829G>T	XP_011512602.1:p.Glu943Asp
XM_011514302.2:c.2610G>T	XP_011512604.1:p.Glu870Asp
XM_017010250.1:c.3723G>T	XP_016865739.1:p.Glu1241Asp
XM_017010251.2:c.2541G>T	XP_016865740.1:p.Glu847Asp
NM_080680.3:c.3723G>T MANE Select	NP_542411.2:p.Glu1241Asp
NM_080681.3:c.3465G>T	NP_542412.2:p.Glu1155Asp
NM_080679.3:c.3402G>T	NP_542410.2:p.Glu1134Asp