Canonical Allele Identifier: CA449881457

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142337A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174560A>G , CM000668.2:g.33174560A>G	GRCh38
NC_000006.11:g.33142337A>G , CM000668.1:g.33142337A>G	GRCh37
NC_000006.10:g.33250315A>G	NCBI36
NG_011589.1:g.22909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.970T>C
ENST00000341947.7:c.2397T>C MANE Select	ENSP00000339915.2:p.Gly799=
ENST00000341947.6:c.2397T>C	ENSP00000339915.2:p.Gly799=
ENST00000361917.5:c.2076T>C	ENSP00000355123.1:p.Gly692=
ENST00000374708.8:c.2139T>C	ENSP00000363840.4:p.Gly713=
ENST00000477772.1:n.272+2449T>C
NM_080679.2:c.2076T>C	NP_542410.2:p.Gly692=
NM_080680.2:c.2397T>C	NP_542411.2:p.Gly799=
NM_080681.2:c.2139T>C	NP_542412.2:p.Gly713=
XM_011514298.1:c.1551T>C	XP_011512600.1:p.Gly517=
XM_011514299.1:c.1683T>C	XP_011512601.1:p.Gly561=
XM_011514300.1:c.1503T>C	XP_011512602.1:p.Gly501=
XM_011514301.1:c.1440T>C	XP_011512603.1:p.Gly480=
XM_011514302.1:c.1284T>C	XP_011512604.1:p.Gly428=
XM_011514299.2:c.1683T>C	XP_011512601.1:p.Gly561=
XM_011514300.2:c.1503T>C	XP_011512602.1:p.Gly501=
XM_011514302.2:c.1284T>C	XP_011512604.1:p.Gly428=
XM_017010250.1:c.2397T>C	XP_016865739.1:p.Gly799=
XM_017010251.2:c.1215T>C	XP_016865740.1:p.Gly405=
NM_080680.3:c.2397T>C MANE Select	NP_542411.2:p.Gly799=
NM_080681.3:c.2139T>C	NP_542412.2:p.Gly713=
NM_080679.3:c.2076T>C	NP_542410.2:p.Gly692=