Canonical Allele Identifier: CA449867036
Gene: COL11A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33132191C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164414C>A , CM000668.2:g.33164414C>A GRCh38
NC_000006.11:g.33132191C>A , CM000668.1:g.33132191C>A GRCh37
NC_000006.10:g.33240169C>A NCBI36
NG_011589.1:g.33055G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.729G>T
ENST00000341947.7:c.4923G>T MANE Select ENSP00000339915.2:p.Arg1641=
ENST00000341947.6:c.4923G>T ENSP00000339915.2:p.Arg1641=
ENST00000361917.5:c.4602G>T ENSP00000355123.1:p.Arg1534=
ENST00000374708.8:c.4665G>T ENSP00000363840.4:p.Arg1555=
ENST00000477772.1:n.713G>T
NM_080679.2:c.4602G>T NP_542410.2:p.Arg1534=
NM_080680.2:c.4923G>T NP_542411.2:p.Arg1641=
NM_080681.2:c.4665G>T NP_542412.2:p.Arg1555=
XM_011514298.1:c.4077G>T XP_011512600.1:p.Arg1359=
XM_011514299.1:c.4209G>T XP_011512601.1:p.Arg1403=
XM_011514300.1:c.4029G>T XP_011512602.1:p.Arg1343=
XM_011514301.1:c.3966G>T XP_011512603.1:p.Arg1322=
XM_011514302.1:c.3810G>T XP_011512604.1:p.Arg1270=
XM_011514299.2:c.4209G>T XP_011512601.1:p.Arg1403=
XM_011514300.2:c.4029G>T XP_011512602.1:p.Arg1343=
XM_011514302.2:c.3810G>T XP_011512604.1:p.Arg1270=
XM_017010250.1:c.4923G>T XP_016865739.1:p.Arg1641=
XM_017010251.2:c.3741G>T XP_016865740.1:p.Arg1247=
NM_080680.3:c.4923G>T MANE Select NP_542411.2:p.Arg1641=
NM_080681.3:c.4665G>T NP_542412.2:p.Arg1555=
NM_080679.3:c.4602G>T NP_542410.2:p.Arg1534=