Canonical Allele Identifier: CA14942014

Gene: SREBF2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41841765C>T , CM000684.2:g.41841765C>T	GRCh38
NC_000022.10:g.42237769C>T , CM000684.1:g.42237769C>T	GRCh37
NC_000022.9:g.40567715C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.-3+7738C>T	ENSP00000518526.1:n.-3+7738C>T
ENST00000361204.9:c.88+8407C>T MANE Select	ENSP00000354476.4:n.88+8407C>T
ENST00000361204.8:c.88+8407C>T	ENSP00000354476.4:n.88+8407C>T
ENST00000424354.5:c.88+8407C>T	ENSP00000395728.1:n.88+8407C>T
ENST00000612482.4:c.-3+8407C>T	ENSP00000484441.1:n.-3+8407C>T
NM_004599.3:c.88+8407C>T	NP_004590.2:n.88+8407C>T
NR_103834.1:n.280+8407C>T
XM_006724310.1:c.-3+7738C>T	XP_006724373.1:n.-3+7738C>T
XM_011530347.1:c.88+8407C>T	XP_011528649.1:n.88+8407C>T
XM_006724310.3:c.-3+7738C>T	XP_006724373.1:n.-3+7738C>T
XM_011530347.2:c.88+8407C>T	XP_011528649.1:n.88+8407C>T
XM_017028921.2:c.88+8407C>T	XP_016884410.1:n.88+8407C>T
XM_017028922.2:c.88+8407C>T	XP_016884411.1:n.88+8407C>T
XR_001755276.2:n.231+8407C>T
XR_001755277.2:n.231+8407C>T
XR_001755278.2:n.254+8407C>T
NM_004599.4:c.88+8407C>T MANE Select	NP_004590.2:n.88+8407C>T
NR_103834.2:n.254+8407C>T