Canonical Allele Identifier: CA363616128

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132132T>G (hg19) ; chr6:g.33164355T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164355T>G , CM000668.2:g.33164355T>G	GRCh38
NC_000006.11:g.33132132T>G , CM000668.1:g.33132132T>G	GRCh37
NC_000006.10:g.33240110T>G	NCBI36
NG_011589.1:g.33114A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.788A>C
ENST00000341947.7:c.4982A>C MANE Select	ENSP00000339915.2:p.Asp1661Ala
ENST00000341947.6:c.4982A>C	ENSP00000339915.2:p.Asp1661Ala
ENST00000361917.5:c.4661A>C	ENSP00000355123.1:p.Asp1554Ala
ENST00000374708.8:c.4724A>C	ENSP00000363840.4:p.Asp1575Ala
ENST00000477772.1:n.772A>C
NM_080679.2:c.4661A>C	NP_542410.2:p.Asp1554Ala
NM_080680.2:c.4982A>C	NP_542411.2:p.Asp1661Ala
NM_080681.2:c.4724A>C	NP_542412.2:p.Asp1575Ala
XM_011514298.1:c.4136A>C	XP_011512600.1:p.Asp1379Ala
XM_011514299.1:c.4268A>C	XP_011512601.1:p.Asp1423Ala
XM_011514300.1:c.4088A>C	XP_011512602.1:p.Asp1363Ala
XM_011514301.1:c.4025A>C	XP_011512603.1:p.Asp1342Ala
XM_011514302.1:c.3869A>C	XP_011512604.1:p.Asp1290Ala
XM_011514299.2:c.4268A>C	XP_011512601.1:p.Asp1423Ala
XM_011514300.2:c.4088A>C	XP_011512602.1:p.Asp1363Ala
XM_011514302.2:c.3869A>C	XP_011512604.1:p.Asp1290Ala
XM_017010250.1:c.4982A>C	XP_016865739.1:p.Asp1661Ala
XM_017010251.2:c.3800A>C	XP_016865740.1:p.Asp1267Ala
NM_080680.3:c.4982A>C MANE Select	NP_542411.2:p.Asp1661Ala
NM_080681.3:c.4724A>C	NP_542412.2:p.Asp1575Ala
NM_080679.3:c.4661A>C	NP_542410.2:p.Asp1554Ala