Canonical Allele Identifier: CA363616350

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132178A>C (hg19) ; chr6:g.33164401A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164401A>C , CM000668.2:g.33164401A>C	GRCh38
NC_000006.11:g.33132178A>C , CM000668.1:g.33132178A>C	GRCh37
NC_000006.10:g.33240156A>C	NCBI36
NG_011589.1:g.33068T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.742T>G
ENST00000341947.7:c.4936T>G MANE Select	ENSP00000339915.2:p.Ser1646Ala
ENST00000341947.6:c.4936T>G	ENSP00000339915.2:p.Ser1646Ala
ENST00000361917.5:c.4615T>G	ENSP00000355123.1:p.Ser1539Ala
ENST00000374708.8:c.4678T>G	ENSP00000363840.4:p.Ser1560Ala
ENST00000477772.1:n.726T>G
NM_080679.2:c.4615T>G	NP_542410.2:p.Ser1539Ala
NM_080680.2:c.4936T>G	NP_542411.2:p.Ser1646Ala
NM_080681.2:c.4678T>G	NP_542412.2:p.Ser1560Ala
XM_011514298.1:c.4090T>G	XP_011512600.1:p.Ser1364Ala
XM_011514299.1:c.4222T>G	XP_011512601.1:p.Ser1408Ala
XM_011514300.1:c.4042T>G	XP_011512602.1:p.Ser1348Ala
XM_011514301.1:c.3979T>G	XP_011512603.1:p.Ser1327Ala
XM_011514302.1:c.3823T>G	XP_011512604.1:p.Ser1275Ala
XM_011514299.2:c.4222T>G	XP_011512601.1:p.Ser1408Ala
XM_011514300.2:c.4042T>G	XP_011512602.1:p.Ser1348Ala
XM_011514302.2:c.3823T>G	XP_011512604.1:p.Ser1275Ala
XM_017010250.1:c.4936T>G	XP_016865739.1:p.Ser1646Ala
XM_017010251.2:c.3754T>G	XP_016865740.1:p.Ser1252Ala
NM_080680.3:c.4936T>G MANE Select	NP_542411.2:p.Ser1646Ala
NM_080681.3:c.4678T>G	NP_542412.2:p.Ser1560Ala
NM_080679.3:c.4615T>G	NP_542410.2:p.Ser1539Ala