Canonical Allele Identifier: CA449867308

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132698G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164921G>C , CM000668.2:g.33164921G>C	GRCh38
NC_000006.11:g.33132698G>C , CM000668.1:g.33132698G>C	GRCh37
NC_000006.10:g.33240676G>C	NCBI36
NG_011589.1:g.32548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.600C>G
ENST00000341947.7:c.4794C>G MANE Select	ENSP00000339915.2:p.Ala1598=
ENST00000341947.6:c.4794C>G	ENSP00000339915.2:p.Ala1598=
ENST00000361917.5:c.4473C>G	ENSP00000355123.1:p.Ala1491=
ENST00000374708.8:c.4536C>G	ENSP00000363840.4:p.Ala1512=
ENST00000477772.1:n.584C>G
NM_080679.2:c.4473C>G	NP_542410.2:p.Ala1491=
NM_080680.2:c.4794C>G	NP_542411.2:p.Ala1598=
NM_080681.2:c.4536C>G	NP_542412.2:p.Ala1512=
XM_011514298.1:c.3948C>G	XP_011512600.1:p.Ala1316=
XM_011514299.1:c.4080C>G	XP_011512601.1:p.Ala1360=
XM_011514300.1:c.3900C>G	XP_011512602.1:p.Ala1300=
XM_011514301.1:c.3837C>G	XP_011512603.1:p.Ala1279=
XM_011514302.1:c.3681C>G	XP_011512604.1:p.Ala1227=
XM_011514299.2:c.4080C>G	XP_011512601.1:p.Ala1360=
XM_011514300.2:c.3900C>G	XP_011512602.1:p.Ala1300=
XM_011514302.2:c.3681C>G	XP_011512604.1:p.Ala1227=
XM_017010250.1:c.4794C>G	XP_016865739.1:p.Ala1598=
XM_017010251.2:c.3612C>G	XP_016865740.1:p.Ala1204=
NM_080680.3:c.4794C>G MANE Select	NP_542411.2:p.Ala1598=
NM_080681.3:c.4536C>G	NP_542412.2:p.Ala1512=
NM_080679.3:c.4473C>G	NP_542410.2:p.Ala1491=