Canonical Allele Identifier: CA3749987

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164859A>G , CM000668.2:g.33164859A>G	GRCh38
NC_000006.11:g.33132636A>G , CM000668.1:g.33132636A>G	GRCh37
NC_000006.10:g.33240614A>G	NCBI36
NG_011589.1:g.32610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.662T>C
ENST00000341947.7:c.4856T>C MANE Select	ENSP00000339915.2:p.Val1619Ala
ENST00000341947.6:c.4856T>C	ENSP00000339915.2:p.Val1619Ala
ENST00000361917.5:c.4535T>C	ENSP00000355123.1:p.Val1512Ala
ENST00000374708.8:c.4598T>C	ENSP00000363840.4:p.Val1533Ala
ENST00000477772.1:n.646T>C
NM_080679.2:c.4535T>C	NP_542410.2:p.Val1512Ala
NM_080680.2:c.4856T>C	NP_542411.2:p.Val1619Ala
NM_080681.2:c.4598T>C	NP_542412.2:p.Val1533Ala
XM_011514298.1:c.4010T>C	XP_011512600.1:p.Val1337Ala
XM_011514299.1:c.4142T>C	XP_011512601.1:p.Val1381Ala
XM_011514300.1:c.3962T>C	XP_011512602.1:p.Val1321Ala
XM_011514301.1:c.3899T>C	XP_011512603.1:p.Val1300Ala
XM_011514302.1:c.3743T>C	XP_011512604.1:p.Val1248Ala
XM_011514299.2:c.4142T>C	XP_011512601.1:p.Val1381Ala
XM_011514300.2:c.3962T>C	XP_011512602.1:p.Val1321Ala
XM_011514302.2:c.3743T>C	XP_011512604.1:p.Val1248Ala
XM_017010250.1:c.4856T>C	XP_016865739.1:p.Val1619Ala
XM_017010251.2:c.3674T>C	XP_016865740.1:p.Val1225Ala
NM_080680.3:c.4856T>C MANE Select	NP_542411.2:p.Val1619Ala
NM_080681.3:c.4598T>C	NP_542412.2:p.Val1533Ala
NM_080679.3:c.4535T>C	NP_542410.2:p.Val1512Ala