Canonical Allele Identifier: CA400601477

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837458-C-T
• MyVariant Identifiers: chr17:g.61914818C>T (hg19) ; chr17:g.63837458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837458C>T , CM000679.2:g.63837458C>T	GRCh38
NC_000017.10:g.61914818C>T , CM000679.1:g.61914818C>T	GRCh37
NC_000017.9:g.59268550C>T	NCBI36
NG_053004.1:g.10534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.272G>A
ENST00000698015.1:n.18G>A
ENST00000698016.1:c.243G>A	ENSP00000513502.1:p.Met81Ile
ENST00000698021.1:c.47G>A
ENST00000698022.1:c.201G>A	ENSP00000513504.1:p.Met67Ile
ENST00000698027.1:c.243G>A	ENSP00000513505.1:p.Met81Ile
ENST00000448276.7:c.384G>A MANE Select	ENSP00000392617.2:p.Met128Ile
ENST00000225742.13:c.159G>A	ENSP00000225742.9:p.Met53Ile
ENST00000323347.14:c.240G>A	ENSP00000318451.10:p.Met80Ile
ENST00000448276.6:c.384G>A	ENSP00000392617.2:p.Met128Ile
ENST00000577686.1:n.53-221G>A
ENST00000580054.1:c.168G>A	ENSP00000463793.1:p.Met56Ile
ENST00000584400.5:c.217-221G>A	ENSP00000464503.1:n.217-221G>A
ENST00000613943.4:c.273G>A	ENSP00000483605.1:p.Met91Ile
NM_001098426.1:c.384G>A	NP_001091896.1:p.Met128Ile
XM_005257604.2:c.159G>A	XP_005257661.2:p.Met53Ile
NM_001330439.1:c.159G>A	NP_001317368.1:p.Met53Ile
NM_001330440.1:c.240G>A	NP_001317369.1:p.Met80Ile
NM_001098426.2:c.384G>A MANE Select	NP_001091896.1:p.Met128Ile
NM_001330440.2:c.240G>A	NP_001317369.1:p.Met80Ile