Canonical Allele Identifier: CA292951515

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1008373855
• gnomAD v3: 17-63832094-G-A
• gnomAD v4: 17-63832094-G-A
• MyVariant Identifiers: chr17:g.61909454G>A (hg19) ; chr17:g.63832094G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832094G>A , CM000679.2:g.63832094G>A	GRCh38
NC_000017.10:g.61909454G>A , CM000679.1:g.61909454G>A	GRCh37
NC_000017.9:g.59263186G>A	NCBI36
NG_053004.1:g.15898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3292C>T
ENST00000698013.1:n.3404C>T
ENST00000698014.1:n.3627C>T
ENST00000698015.1:n.2720C>T
ENST00000698016.1:c.*844C>T	ENSP00000513502.1:n.*844C>T
ENST00000698017.1:n.2794C>T
ENST00000448276.7:c.*844C>T MANE Select	ENSP00000392617.2:n.*844C>T
ENST00000448276.6:c.*844C>T	ENSP00000392617.2:n.*844C>T
ENST00000613943.4:c.2329C>T	ENSP00000483605.1:n.2329C>T
NM_001098426.1:c.*844C>T	NP_001091896.1:n.*844C>T
XM_005257604.2:c.*844C>T	XP_005257661.2:n.*844C>T
NM_001330439.1:c.*844C>T	NP_001317368.1:n.*844C>T
NM_001330440.1:c.*844C>T	NP_001317369.1:n.*844C>T
NM_001098426.2:c.*844C>T MANE Select	NP_001091896.1:n.*844C>T
NM_001330440.2:c.*844C>T	NP_001317369.1:n.*844C>T