Allele Registry

Canonical Allele Identifier: CA3751142

Gene: COL11A2 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM3349383

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.33177700G>A

GRCh37 chr6:g.33145477G>A

Linked Data - Sequence & Population

gnomAD v2:

6:33145477 G / A

gnomAD v3:

6:33177700 G / A

gnomAD v4:

chr6-33177700-G-A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000487615

ClinVar Variation:

425376

dbSNP:

374156844

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33177700G>A , CM000668.2:g.33177700G>A	GRCh38
NC_000006.11:g.33145477G>A , CM000668.1:g.33145477G>A	GRCh37
NC_000006.10:g.33253455G>A	NCBI36
NG_011589.1:g.19769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.452C>T
ENST00000341947.7:c.1879C>T MANE Select	ENSP00000339915.2:p.Arg627Ter
ENST00000341947.6:c.1879C>T	ENSP00000339915.2:p.Arg627Ter
ENST00000361917.5:c.1558C>T	ENSP00000355123.1:p.Arg520Ter
ENST00000374708.8:c.1621C>T	ENSP00000363840.4:p.Arg541Ter
ENST00000477772.1:n.98C>T
NM_080679.2:c.1558C>T	NP_542410.2:p.Arg520Ter
NM_080680.2:c.1879C>T	NP_542411.2:p.Arg627Ter
NM_080681.2:c.1621C>T	NP_542412.2:p.Arg541Ter
XM_011514298.1:c.1033C>T	XP_011512600.1:p.Arg345Ter
XM_011514299.1:c.1165C>T	XP_011512601.1:p.Arg389Ter
XM_011514300.1:c.985C>T	XP_011512602.1:p.Arg329Ter
XM_011514301.1:c.922C>T	XP_011512603.1:p.Arg308Ter
XM_011514302.1:c.766C>T	XP_011512604.1:p.Arg256Ter
XM_011514299.2:c.1165C>T	XP_011512601.1:p.Arg389Ter
XM_011514300.2:c.985C>T	XP_011512602.1:p.Arg329Ter
XM_011514302.2:c.766C>T	XP_011512604.1:p.Arg256Ter
XM_017010250.1:c.1879C>T	XP_016865739.1:p.Arg627Ter
XM_017010251.2:c.697C>T	XP_016865740.1:p.Arg233Ter
NM_080680.3:c.1879C>T MANE Select	NP_542411.2:p.Arg627Ter
NM_080681.3:c.1621C>T	NP_542412.2:p.Arg541Ter
NM_080679.3:c.1558C>T	NP_542410.2:p.Arg520Ter

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