Canonical Allele Identifier: CA400601575

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914866C>G (hg19) ; chr17:g.63837506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837506C>G , CM000679.2:g.63837506C>G	GRCh38
NC_000017.10:g.61914866C>G , CM000679.1:g.61914866C>G	GRCh37
NC_000017.9:g.59268598C>G	NCBI36
NG_053004.1:g.10486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.224G>C
ENST00000698016.1:c.195G>C	ENSP00000513502.1:p.Met65Ile
ENST00000698022.1:c.153G>C	ENSP00000513504.1:p.Met51Ile
ENST00000698027.1:c.195G>C	ENSP00000513505.1:p.Met65Ile
ENST00000448276.7:c.336G>C MANE Select	ENSP00000392617.2:p.Met112Ile
ENST00000225742.13:c.111G>C	ENSP00000225742.9:p.Met37Ile
ENST00000323347.14:c.192G>C	ENSP00000318451.10:p.Met64Ile
ENST00000448276.6:c.336G>C	ENSP00000392617.2:p.Met112Ile
ENST00000577686.1:n.53-269G>C
ENST00000580054.1:c.120G>C	ENSP00000463793.1:p.Met40Ile
ENST00000584400.5:c.217-269G>C	ENSP00000464503.1:n.217-269G>C
ENST00000613943.4:c.225G>C	ENSP00000483605.1:p.Met75Ile
NM_001098426.1:c.336G>C	NP_001091896.1:p.Met112Ile
XM_005257604.2:c.111G>C	XP_005257661.2:p.Met37Ile
NM_001330439.1:c.111G>C	NP_001317368.1:p.Met37Ile
NM_001330440.1:c.192G>C	NP_001317369.1:p.Met64Ile
NM_001098426.2:c.336G>C MANE Select	NP_001091896.1:p.Met112Ile
NM_001330440.2:c.192G>C	NP_001317369.1:p.Met64Ile