Canonical Allele Identifier: CA363636578

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33139588C>G (hg19) ; chr6:g.33171811C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171811C>G , CM000668.2:g.33171811C>G	GRCh38
NC_000006.11:g.33139588C>G , CM000668.1:g.33139588C>G	GRCh37
NC_000006.10:g.33247566C>G	NCBI36
NG_011589.1:g.25658G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3052G>C MANE Select	ENSP00000339915.2:p.Gly1018Arg
ENST00000341947.6:c.3052G>C	ENSP00000339915.2:p.Gly1018Arg
ENST00000361917.5:c.2731G>C	ENSP00000355123.1:p.Gly911Arg
ENST00000374708.8:c.2794G>C	ENSP00000363840.4:p.Gly932Arg
ENST00000477772.1:n.272+5198G>C
NM_080679.2:c.2731G>C	NP_542410.2:p.Gly911Arg
NM_080680.2:c.3052G>C	NP_542411.2:p.Gly1018Arg
NM_080681.2:c.2794G>C	NP_542412.2:p.Gly932Arg
XM_011514298.1:c.2206G>C	XP_011512600.1:p.Gly736Arg
XM_011514299.1:c.2338G>C	XP_011512601.1:p.Gly780Arg
XM_011514300.1:c.2158G>C	XP_011512602.1:p.Gly720Arg
XM_011514301.1:c.2095G>C	XP_011512603.1:p.Gly699Arg
XM_011514302.1:c.1939G>C	XP_011512604.1:p.Gly647Arg
XM_011514299.2:c.2338G>C	XP_011512601.1:p.Gly780Arg
XM_011514300.2:c.2158G>C	XP_011512602.1:p.Gly720Arg
XM_011514302.2:c.1939G>C	XP_011512604.1:p.Gly647Arg
XM_017010250.1:c.3052G>C	XP_016865739.1:p.Gly1018Arg
XM_017010251.2:c.1870G>C	XP_016865740.1:p.Gly624Arg
NM_080680.3:c.3052G>C MANE Select	NP_542411.2:p.Gly1018Arg
NM_080681.3:c.2794G>C	NP_542412.2:p.Gly932Arg
NM_080679.3:c.2731G>C	NP_542410.2:p.Gly911Arg