Canonical Allele Identifier: CA363616262

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132160A>G (hg19) ; chr6:g.33164383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164383A>G , CM000668.2:g.33164383A>G	GRCh38
NC_000006.11:g.33132160A>G , CM000668.1:g.33132160A>G	GRCh37
NC_000006.10:g.33240138A>G	NCBI36
NG_011589.1:g.33086T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.760T>C
ENST00000341947.7:c.4954T>C MANE Select	ENSP00000339915.2:p.Ser1652Pro
ENST00000341947.6:c.4954T>C	ENSP00000339915.2:p.Ser1652Pro
ENST00000361917.5:c.4633T>C	ENSP00000355123.1:p.Ser1545Pro
ENST00000374708.8:c.4696T>C	ENSP00000363840.4:p.Ser1566Pro
ENST00000477772.1:n.744T>C
NM_080679.2:c.4633T>C	NP_542410.2:p.Ser1545Pro
NM_080680.2:c.4954T>C	NP_542411.2:p.Ser1652Pro
NM_080681.2:c.4696T>C	NP_542412.2:p.Ser1566Pro
XM_011514298.1:c.4108T>C	XP_011512600.1:p.Ser1370Pro
XM_011514299.1:c.4240T>C	XP_011512601.1:p.Ser1414Pro
XM_011514300.1:c.4060T>C	XP_011512602.1:p.Ser1354Pro
XM_011514301.1:c.3997T>C	XP_011512603.1:p.Ser1333Pro
XM_011514302.1:c.3841T>C	XP_011512604.1:p.Ser1281Pro
XM_011514299.2:c.4240T>C	XP_011512601.1:p.Ser1414Pro
XM_011514300.2:c.4060T>C	XP_011512602.1:p.Ser1354Pro
XM_011514302.2:c.3841T>C	XP_011512604.1:p.Ser1281Pro
XM_017010250.1:c.4954T>C	XP_016865739.1:p.Ser1652Pro
XM_017010251.2:c.3772T>C	XP_016865740.1:p.Ser1258Pro
NM_080680.3:c.4954T>C MANE Select	NP_542411.2:p.Ser1652Pro
NM_080681.3:c.4696T>C	NP_542412.2:p.Ser1566Pro
NM_080679.3:c.4633T>C	NP_542410.2:p.Ser1545Pro