Canonical Allele Identifier: CA363636234

Gene: COL11A2

Linked Data

• dbSNP Id: rs1437809197
• MyVariant Identifiers: chr6:g.33139341C>A (hg19) ; chr6:g.33171564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171564C>A , CM000668.2:g.33171564C>A	GRCh38
NC_000006.11:g.33139341C>A , CM000668.1:g.33139341C>A	GRCh37
NC_000006.10:g.33247319C>A	NCBI36
NG_011589.1:g.25905G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.3161G>T MANE Select	ENSP00000339915.2:p.Gly1054Val
ENST00000341947.6:c.3161G>T	ENSP00000339915.2:p.Gly1054Val
ENST00000361917.5:c.2840G>T	ENSP00000355123.1:p.Gly947Val
ENST00000374708.8:c.2903G>T	ENSP00000363840.4:p.Gly968Val
ENST00000477772.1:n.272+5445G>T
NM_080679.2:c.2840G>T	NP_542410.2:p.Gly947Val
NM_080680.2:c.3161G>T	NP_542411.2:p.Gly1054Val
NM_080681.2:c.2903G>T	NP_542412.2:p.Gly968Val
XM_011514298.1:c.2315G>T	XP_011512600.1:p.Gly772Val
XM_011514299.1:c.2447G>T	XP_011512601.1:p.Gly816Val
XM_011514300.1:c.2267G>T	XP_011512602.1:p.Gly756Val
XM_011514301.1:c.2204G>T	XP_011512603.1:p.Gly735Val
XM_011514302.1:c.2048G>T	XP_011512604.1:p.Gly683Val
XM_011514299.2:c.2447G>T	XP_011512601.1:p.Gly816Val
XM_011514300.2:c.2267G>T	XP_011512602.1:p.Gly756Val
XM_011514302.2:c.2048G>T	XP_011512604.1:p.Gly683Val
XM_017010250.1:c.3161G>T	XP_016865739.1:p.Gly1054Val
XM_017010251.2:c.1979G>T	XP_016865740.1:p.Gly660Val
NM_080680.3:c.3161G>T MANE Select	NP_542411.2:p.Gly1054Val
NM_080681.3:c.2903G>T	NP_542412.2:p.Gly968Val
NM_080679.3:c.2840G>T	NP_542410.2:p.Gly947Val