Canonical Allele Identifier: CA363616343

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132175C>A (hg19) ; chr6:g.33164398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164398C>A , CM000668.2:g.33164398C>A	GRCh38
NC_000006.11:g.33132175C>A , CM000668.1:g.33132175C>A	GRCh37
NC_000006.10:g.33240153C>A	NCBI36
NG_011589.1:g.33071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.745G>T
ENST00000341947.7:c.4939G>T MANE Select	ENSP00000339915.2:p.Ala1647Ser
ENST00000341947.6:c.4939G>T	ENSP00000339915.2:p.Ala1647Ser
ENST00000361917.5:c.4618G>T	ENSP00000355123.1:p.Ala1540Ser
ENST00000374708.8:c.4681G>T	ENSP00000363840.4:p.Ala1561Ser
ENST00000477772.1:n.729G>T
NM_080679.2:c.4618G>T	NP_542410.2:p.Ala1540Ser
NM_080680.2:c.4939G>T	NP_542411.2:p.Ala1647Ser
NM_080681.2:c.4681G>T	NP_542412.2:p.Ala1561Ser
XM_011514298.1:c.4093G>T	XP_011512600.1:p.Ala1365Ser
XM_011514299.1:c.4225G>T	XP_011512601.1:p.Ala1409Ser
XM_011514300.1:c.4045G>T	XP_011512602.1:p.Ala1349Ser
XM_011514301.1:c.3982G>T	XP_011512603.1:p.Ala1328Ser
XM_011514302.1:c.3826G>T	XP_011512604.1:p.Ala1276Ser
XM_011514299.2:c.4225G>T	XP_011512601.1:p.Ala1409Ser
XM_011514300.2:c.4045G>T	XP_011512602.1:p.Ala1349Ser
XM_011514302.2:c.3826G>T	XP_011512604.1:p.Ala1276Ser
XM_017010250.1:c.4939G>T	XP_016865739.1:p.Ala1647Ser
XM_017010251.2:c.3757G>T	XP_016865740.1:p.Ala1253Ser
NM_080680.3:c.4939G>T MANE Select	NP_542411.2:p.Ala1647Ser
NM_080681.3:c.4681G>T	NP_542412.2:p.Ala1561Ser
NM_080679.3:c.4618G>T	NP_542410.2:p.Ala1540Ser